It’s Bohring-Opitz Syndrome Awareness Day! This year we present Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS), which have been described in the medical literature and case studies in recent years between 2006 – 2024. We also highlight treatment options noted in the important “Bohring-Opitz Syndrome” research.
Although children with Bohring-Opitz Syndrome often look alike, and their clinical phenotype at birth is extremely similar, each child is unique and may be affected differently. Not every child will have all the classic physical characteristics, and the variation in levels of development from one child to the next can be great.*
However, this interactive overview and list of symptoms are still incomplete, as they only include symptoms reported in published medical literature. On the other hand, parents of the Bohring-Opitz Parent Support Group are sharing reports of more symptoms, but also success stories with each other.
This highlights the need for more research, in which these publicly “unknown” symptoms and knowledge of successful treatment methods may be included and eventually published.
What can I do?
There are many ways to help increase a better understanding of Bohring-Opitz Syndrome:
- Be part of the Bohring-Opitz/ASXL Registry,
- Join a research study to share your knowledge about your child,
- And if you are able to, try to attend the ASXL conferences of the ARRE Foundation!
New insights from these ongoing studies will be published and therefore visible to medical experts, so that ultimately all our loved ones have access to better care.
Bohring-Opitz Syndrome 